Incidental Mutation 'R5255:Akr1c6'
ID |
399513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akr1c6
|
Ensembl Gene |
ENSMUSG00000021210 |
Gene Name |
aldo-keto reductase family 1, member C6 |
Synonyms |
estradiol 17-beta-dehydrogenase (A-specific), Hsd17b5, 3alpha-HSD, Akr1c1 |
MMRRC Submission |
042826-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R5255 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
4484354-4507529 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4497018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 153
(K153N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021630]
[ENSMUST00000156277]
[ENSMUST00000220941]
[ENSMUST00000223118]
|
AlphaFold |
P70694 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021630
AA Change: K153N
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000021630 Gene: ENSMUSG00000021210 AA Change: K153N
Domain | Start | End | E-Value | Type |
Pfam:Aldo_ket_red
|
18 |
301 |
2.2e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156277
AA Change: K100N
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000117624 Gene: ENSMUSG00000021210 AA Change: K100N
Domain | Start | End | E-Value | Type |
Pfam:Aldo_ket_red
|
1 |
173 |
3e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220941
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223118
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
T |
17: 36,270,629 (GRCm39) |
|
probably null |
Het |
Abr |
T |
A |
11: 76,346,509 (GRCm39) |
E434V |
probably damaging |
Het |
Acaca |
T |
A |
11: 84,202,133 (GRCm39) |
L197Q |
probably damaging |
Het |
Acot10 |
A |
G |
15: 20,666,018 (GRCm39) |
I241T |
probably benign |
Het |
Acp6 |
T |
C |
3: 97,075,312 (GRCm39) |
V182A |
probably benign |
Het |
Ahnak2 |
G |
A |
12: 112,739,812 (GRCm39) |
T1420I |
possibly damaging |
Het |
Ank3 |
T |
C |
10: 69,721,030 (GRCm39) |
L600P |
probably damaging |
Het |
Arhgef1 |
G |
A |
7: 24,624,447 (GRCm39) |
A824T |
probably damaging |
Het |
B230307C23Rik |
T |
A |
16: 97,809,891 (GRCm39) |
N22K |
possibly damaging |
Het |
Btn1a1 |
A |
G |
13: 23,648,324 (GRCm39) |
|
probably benign |
Het |
Cenpf |
G |
A |
1: 189,404,824 (GRCm39) |
T352I |
possibly damaging |
Het |
Ces4a |
C |
A |
8: 105,869,121 (GRCm39) |
F185L |
probably benign |
Het |
Clybl |
A |
C |
14: 122,621,691 (GRCm39) |
E293A |
probably benign |
Het |
Cobl |
A |
G |
11: 12,325,825 (GRCm39) |
W217R |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,086,945 (GRCm39) |
N677S |
probably benign |
Het |
Ddx51 |
C |
A |
5: 110,803,908 (GRCm39) |
T390N |
possibly damaging |
Het |
Drd5 |
T |
G |
5: 38,477,310 (GRCm39) |
V101G |
probably damaging |
Het |
Elmo3 |
C |
T |
8: 106,033,985 (GRCm39) |
P244L |
probably benign |
Het |
Esrrg |
G |
A |
1: 187,878,555 (GRCm39) |
R189H |
probably damaging |
Het |
Fxr2 |
A |
G |
11: 69,534,667 (GRCm39) |
T183A |
probably benign |
Het |
Gjd4 |
T |
C |
18: 9,280,613 (GRCm39) |
H155R |
probably benign |
Het |
Hivep2 |
T |
A |
10: 14,007,011 (GRCm39) |
|
probably null |
Het |
Ints10 |
T |
C |
8: 69,246,624 (GRCm39) |
|
probably benign |
Het |
Kank4 |
T |
C |
4: 98,667,209 (GRCm39) |
T413A |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,847,735 (GRCm39) |
V568A |
probably damaging |
Het |
Mobp |
A |
G |
9: 119,997,419 (GRCm39) |
|
probably benign |
Het |
Mpst |
A |
G |
15: 78,294,708 (GRCm39) |
S147G |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,795,741 (GRCm39) |
Y559F |
possibly damaging |
Het |
Nceh1 |
T |
C |
3: 27,237,288 (GRCm39) |
I21T |
probably damaging |
Het |
Or4f7 |
T |
C |
2: 111,644,523 (GRCm39) |
K183E |
probably benign |
Het |
Phf8-ps |
A |
T |
17: 33,285,739 (GRCm39) |
C354* |
probably null |
Het |
Ralgps1 |
A |
T |
2: 33,166,171 (GRCm39) |
V126E |
probably damaging |
Het |
Rnls |
A |
G |
19: 33,359,823 (GRCm39) |
V115A |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,108,013 (GRCm39) |
V1554D |
probably damaging |
Het |
Slc16a11 |
T |
A |
11: 70,106,258 (GRCm39) |
D165E |
probably damaging |
Het |
Slc16a5 |
A |
G |
11: 115,353,501 (GRCm39) |
T23A |
probably benign |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc3a1 |
A |
T |
17: 85,335,881 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
A |
T |
14: 110,987,185 (GRCm39) |
*841K |
probably null |
Het |
Syngr1 |
A |
G |
15: 79,975,647 (GRCm39) |
Y18C |
possibly damaging |
Het |
Tarbp1 |
T |
G |
8: 127,155,709 (GRCm39) |
D1343A |
probably benign |
Het |
Vac14 |
T |
A |
8: 111,360,961 (GRCm39) |
I177N |
probably damaging |
Het |
Vmn1r218 |
A |
T |
13: 23,320,881 (GRCm39) |
D76V |
possibly damaging |
Het |
Wdr75 |
T |
A |
1: 45,838,277 (GRCm39) |
I62N |
probably damaging |
Het |
Zfp12 |
A |
T |
5: 143,226,134 (GRCm39) |
I68L |
probably null |
Het |
Zswim8 |
T |
A |
14: 20,771,719 (GRCm39) |
Y1551N |
probably damaging |
Het |
|
Other mutations in Akr1c6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Akr1c6
|
APN |
13 |
4,498,977 (GRCm39) |
splice site |
probably benign |
|
IGL01838:Akr1c6
|
APN |
13 |
4,499,035 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02318:Akr1c6
|
APN |
13 |
4,488,496 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02986:Akr1c6
|
APN |
13 |
4,486,414 (GRCm39) |
missense |
probably benign |
0.42 |
IGL03168:Akr1c6
|
APN |
13 |
4,486,280 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03190:Akr1c6
|
APN |
13 |
4,496,412 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL03258:Akr1c6
|
APN |
13 |
4,486,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R0940:Akr1c6
|
UTSW |
13 |
4,486,372 (GRCm39) |
missense |
probably benign |
0.42 |
R1442:Akr1c6
|
UTSW |
13 |
4,507,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R1624:Akr1c6
|
UTSW |
13 |
4,496,363 (GRCm39) |
missense |
probably benign |
|
R1937:Akr1c6
|
UTSW |
13 |
4,496,383 (GRCm39) |
missense |
probably benign |
0.01 |
R2392:Akr1c6
|
UTSW |
13 |
4,484,477 (GRCm39) |
splice site |
probably null |
|
R2398:Akr1c6
|
UTSW |
13 |
4,499,035 (GRCm39) |
missense |
probably benign |
0.44 |
R4655:Akr1c6
|
UTSW |
13 |
4,499,428 (GRCm39) |
missense |
probably damaging |
0.98 |
R4761:Akr1c6
|
UTSW |
13 |
4,497,010 (GRCm39) |
missense |
probably benign |
0.01 |
R4913:Akr1c6
|
UTSW |
13 |
4,504,524 (GRCm39) |
missense |
probably benign |
0.18 |
R4923:Akr1c6
|
UTSW |
13 |
4,504,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R4953:Akr1c6
|
UTSW |
13 |
4,488,608 (GRCm39) |
splice site |
probably null |
|
R5452:Akr1c6
|
UTSW |
13 |
4,504,544 (GRCm39) |
missense |
probably benign |
0.00 |
R5660:Akr1c6
|
UTSW |
13 |
4,499,053 (GRCm39) |
missense |
probably benign |
0.13 |
R6242:Akr1c6
|
UTSW |
13 |
4,486,361 (GRCm39) |
missense |
probably benign |
0.01 |
R6323:Akr1c6
|
UTSW |
13 |
4,497,017 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6599:Akr1c6
|
UTSW |
13 |
4,499,318 (GRCm39) |
splice site |
probably null |
|
R6847:Akr1c6
|
UTSW |
13 |
4,488,497 (GRCm39) |
nonsense |
probably null |
|
R6989:Akr1c6
|
UTSW |
13 |
4,499,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R7003:Akr1c6
|
UTSW |
13 |
4,504,514 (GRCm39) |
missense |
probably benign |
0.14 |
R7251:Akr1c6
|
UTSW |
13 |
4,497,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R7310:Akr1c6
|
UTSW |
13 |
4,486,354 (GRCm39) |
missense |
probably benign |
|
R8257:Akr1c6
|
UTSW |
13 |
4,488,525 (GRCm39) |
missense |
probably benign |
0.00 |
R8539:Akr1c6
|
UTSW |
13 |
4,484,474 (GRCm39) |
critical splice donor site |
probably null |
|
R8705:Akr1c6
|
UTSW |
13 |
4,484,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R8791:Akr1c6
|
UTSW |
13 |
4,499,373 (GRCm39) |
missense |
probably benign |
0.01 |
R8833:Akr1c6
|
UTSW |
13 |
4,496,377 (GRCm39) |
missense |
possibly damaging |
0.56 |
X0062:Akr1c6
|
UTSW |
13 |
4,488,534 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTAGGGATCGCTCAGGGTC -3'
(R):5'- TCTGTCAGCTGCAGAGGAAG -3'
Sequencing Primer
(F):5'- ATCTGCATGGAGATGTTAGATCCC -3'
(R):5'- TGTCAGCTGCAGAGGAAGAAAGG -3'
|
Posted On |
2016-07-06 |